Genotyping of individual erythroid colonies from patients with polycythemia vera for 9p loss of heterozygosity
| Patient . | 9p SNP . | JAK2 wild-type . | JAK2 V617F-het . | JAK2 V617F-hom . | |||
|---|---|---|---|---|---|---|---|
| 9p het . | 9p LOH . | 9p het . | 9p LOH . | 9p het . | 9p LOH . | ||
| a | rs465514 | 160 | 0 | 0 | 0 | 0 | 5 |
| b | rs428111 | 154 | 0 | 19 | 0 | 0 | 5 |
| c | rs428111 | 56 | 0 | 2 | 0 | 0 | 2 |
| d | rs428111 | 78 | 0 | 9 | 0 | 0 | 6 |
| e | rs2230724 | 64 | 0 | 3 | 0 | 0 | 5 |
| f | rs428111 | 58 | 0 | 3 | 0 | 0 | 1 |
| g | rs428111 | 64 | 0 | 5 | 0 | 0 | 1 |
| h | rs7847141 | 119 | 0 | 15 | 0 | 0 | 1 |
| i | rs428111 | 334 | 0 | 2 | 0 | 0 | 49 |
| j | rs428111 | 108 | 0 | 9 | 0 | 0 | 1 |
| Total | 1195 | 0 | 67 | 0 | 0 | 76 | |
| Patient . | 9p SNP . | JAK2 wild-type . | JAK2 V617F-het . | JAK2 V617F-hom . | |||
|---|---|---|---|---|---|---|---|
| 9p het . | 9p LOH . | 9p het . | 9p LOH . | 9p het . | 9p LOH . | ||
| a | rs465514 | 160 | 0 | 0 | 0 | 0 | 5 |
| b | rs428111 | 154 | 0 | 19 | 0 | 0 | 5 |
| c | rs428111 | 56 | 0 | 2 | 0 | 0 | 2 |
| d | rs428111 | 78 | 0 | 9 | 0 | 0 | 6 |
| e | rs2230724 | 64 | 0 | 3 | 0 | 0 | 5 |
| f | rs428111 | 58 | 0 | 3 | 0 | 0 | 1 |
| g | rs428111 | 64 | 0 | 5 | 0 | 0 | 1 |
| h | rs7847141 | 119 | 0 | 15 | 0 | 0 | 1 |
| i | rs428111 | 334 | 0 | 2 | 0 | 0 | 49 |
| j | rs428111 | 108 | 0 | 9 | 0 | 0 | 1 |
| Total | 1195 | 0 | 67 | 0 | 0 | 76 | |
Patients a-j represent a distinct cohort from those transforming to AML (patients 1-16 in Tables 1 and 3). Individual erythroid colonies were genotyped by pyrosequencing for both the JAK2 V617F mutation and an informative SNP on 9p within or telomeric to JAK2. Data are the number of colonies of each individual genotype. All JAK2 wild-type colonies were heterozygous for a 9p SNP.
SNP indicates single nucleotide polymorphism; het-, heterozygous; hom-; homozygous; and LOH, loss of heterozygosity.